AIP (AHR interacting HSP90 co-chaperone)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9049
Gene name AHR interacting HSP90 co-chaperone
Gene symbol AIP
Synonyms (NCBI Gene)
ARA9FKBP16FKBP37PITA1SMTPHNXAP-2XAP2
Chromosome 11
Chromosome location 11q13.2
Summary The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. Th
SNPs SNP information provided by dbSNP.
24
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (24)
SNP ID Visualize variation Clinical significance Consequence
rs104894190 G>A Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, drug-response Missense variant, coding sequence variant, 3 prime UTR variant
rs104894194 C>T Pathogenic Genic upstream transcript variant, upstream transcript variant, coding sequence variant, stop gained
rs104894195 C>G,T Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant, stop gained
rs104895072 G>T Likely-pathogenic Coding sequence variant, synonymous variant
rs121908357 C>A,T Pathogenic-likely-pathogenic Synonymous variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
772
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (772)
miRTarBase ID miRNA Experiments Reference
MIRT484297 hsa-miR-4779 PAR-CLIP 20371350
MIRT484298 hsa-miR-1321 PAR-CLIP 20371350
MIRT484296 hsa-miR-4739 PAR-CLIP 20371350
MIRT484295 hsa-miR-4756-5p PAR-CLIP 20371350
MIRT484294 hsa-miR-4738-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity TAS 9447995
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IDA 14557246
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0005515 Function Protein binding IPI 14557246, 17329248, 19375531, 20029029, 21170051, 21903422, 22113938, 25036637, 28514442, 28634279, 31980649, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605555 358 ENSG00000110711
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00170
Protein name AH receptor-interacting protein (AIP) (Aryl-hydrocarbon receptor-interacting protein) (HBV X-associated protein 2) (XAP-2) (Immunophilin homolog ARA9)
Protein function May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.; Cellular negative regulator of the hepatitis B virus (HBV) X protein.
PDB 2LKN , 4AIF , 4APO , 7ZUB , 8QMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00254 FKBP_C 26 → 95 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Higher levels seen in the heart, placenta and skeletal muscle. Not expressed in the liver.
Sequence 
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPM
ELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRH
CCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVP
LIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAP
VVSRELQALEARIRQKDEEDKARFRGIFSH
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cushing syndrome
Chemical carcinogenesis - receptor activation 		  Aryl hydrocarbon receptor signalling
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial isolated pituitary adenoma Likely pathogenic; Pathogenic rs886037871, rs267606579 RCV000240114
RCV005600625
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome Pathogenic; Likely pathogenic rs2134254613, rs2495405821, rs267606576, rs987431392, rs104894194, rs104894195, rs2495401766, rs1459480763, rs2495401581, rs1159928352, rs2495407485, rs267606541, rs267606552, rs104895073, rs267606566
View all (5 more)		 RCV004951654
RCV002358357
RCV002412154
RCV002425666
RCV001021869
View all (15 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary adenoma predisposition Pathogenic rs104894194, rs121908356 RCV000005163
RCV000005170
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Somatotroph adenoma Pathogenic; Likely pathogenic rs104894194, rs104894195, rs267606567, rs267606580, rs267606559, rs121908356, rs121908357, rs2495405147, rs2495401264, rs2495409867, rs267606541, rs267606552, rs104895073, rs267606560, rs267606566
View all (4 more)		 RCV000508640
RCV000005166
RCV000005167
RCV000005168
RCV000005169
View all (14 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acroleukopathy, symmetric Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ACROMEGALY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AIP-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations